Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
about
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype CorrelationsAnalysis of quantitative PCR for the diagnosis of deletion and duplication carriers in the dystrophin gene.Identification of a new DMD gene deletion by ectopic transcript analysisQuantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications.A convenient multiplex PCR system for the detection of dystrophin gene deletions: a comparative analysis with cDNA hybridisation shows mistypings by both methods.Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene.The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol.Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy.Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain.Breaking away from home.Proteolipoprotein gene analysis in 82 patients with sporadic Pelizaeus-Merzbacher Disease: duplications, the major cause of the disease, originate more frequently in male germ cells, but point mutations do not. The Clinical European Network on BrainMolecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMTIA duplication.Fluorescent multiplex linkage analysis and carrier detection for Duchenne/Becker muscular dystrophyTwinning and mitotic crossing-over: some possibilities and their implications.Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies.Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphismsIdentification and quantification of somatic mosaicism for a point mutation in a Duchenne muscular dystrophy familyExon deletion pattern in duchene muscular dystrophy in north west of iran.Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation testGenetic analysis of dystrophin gene for affected male and female carriers with Duchenne/Becker muscular dystrophy in Korea.Experience and strategy for the molecular testing of Duchenne muscular dystrophy.Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases.Clinical and Genetic Characterization of Female DystrophinopathyWell-devised quantification analysis for duplication mutation of Duchenne muscular dystrophy aimed at preimplantation genetic diagnosisSimilarity of DMD gene deletion and duplication in the Chinese patients compared to global populationsReplication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization.Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin.Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination.Non-radioactive detection of 17p11.2 duplication in CMT1A: a study of 78 patientsDeletion mutations in Duchenne muscular dystrophy (DMD) in Western Saudi children.Phenotype-genotype analysis of dystrophinopathy caused by duplication mutation in Dystrophin gene in an African patientA novel splice site mutation in a Becker muscular dystrophy patient.Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy.Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community.Mutation analysis in a population-based cohort of boys with Duchenne or Becker muscular dystrophy.
P2860
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P2860
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation
description
1990 nî lūn-bûn
@nan
1990 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1990 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1990年の論文
@ja
1990年論文
@yue
1990年論文
@zh-hant
1990年論文
@zh-hk
1990年論文
@zh-mo
1990年論文
@zh-tw
1990年论文
@wuu
name
Duplicational mutation at the ...... phenotypegenotype correlation
@ast
Duplicational mutation at the ...... phenotypegenotype correlation
@en
type
label
Duplicational mutation at the ...... phenotypegenotype correlation
@ast
Duplicational mutation at the ...... phenotypegenotype correlation
@en
prefLabel
Duplicational mutation at the ...... phenotypegenotype correlation
@ast
Duplicational mutation at the ...... phenotypegenotype correlation
@en
P2093
P2860
P1476
Duplicational mutation at the ...... phenotypegenotype correlation
@en
P2093
P2860
P304
P407
P577
1990-04-01T00:00:00Z